Article

Mutations in 329 probands with suspected renal electrolyte disorders

2025-05-01

Abstract excerpt

The spectrum of coding and non-coding of mutations that contribute to Mendelian diseases is largely unknown. This question is broadly relevant to molecular diagnostic efforts in real-world settings, particularly when the scope of biochemical and other tests performed may be limited prior to genetic testing. We report the results of whole exome sequencing of DNA from 329 patients referred by physicians for suspicio...

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Literature Corpus work: 06310657-3ae7-50bf-ba50-da3a4b7ecec2
DOI: 10.1101/2025.04.28.25326317

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